Study rare disease genetics using family and health data
Part of Genetic & congenital clinical trials.
This study tries to find genetic causes for rare diseases that are not yet understood. It uses a national rare-disease data bank and collects consent from patients and sometimes close family members.
Summary written for real people, not researchers, by Clin2.
Who can take part
- You (or your child) have a rare disease that still has an unknown cause or mechanism
- You are listed in the BaMaRa (French rare disease) national database
- You are covered by the French social security system
- You (or your legal representative) can sign a consent form
- If enrolling family members (parent or sibling), they are also in BaMaRa and sign consent
Quick eligibility check
Answer a few plain-language questions, based on this study's own requirements, to get a preliminary sense of fit.
Similar studies
Other trials that look related to this one.
This study looks for a genetic (DNA) explanation for rare diseases when usual genetic testing hasn’t found an answer. It may help by re-analyzing prior results and comparing them with parents’ DNA to better pinpoint the cause.
This study collects and stores samples and related medical information for people with rare diseases or suspected genetic conditions. It may help researchers better understand these conditions and develop future testing and treatments.
This study looks for genetic causes of rare or unusual disease patterns in people living outside the United States. If you or a family member has a condition that seems to run in the family, started very early, or has an unusual form, you may be asked to provide a DNA sample and medical history.
This study looks at how young adults aged 15–25 with rare genetic conditions (like certain bone, skin, hearing, or facial conditions) are doing in school, work, and social life. Researchers want to understand what helps or prevents young people with these conditions from being included in their communities.
This study brings together experts to analyze your medical information and genetic data, aiming to find a diagnosis for your rare or undiagnosed condition. If you're a Mayo Clinic patient with unexplained symptoms, this could be a chance to get answers.
This study looks at how to create laboratory models of genetic diseases using stem cells made from people’s cells. It may help researchers understand disease causes and how treatments could work, using genetic patients (and some non-patient controls).
Hear when a new Rare Diseases trial opens
We’ll email you when one opens — at most once a week, no account needed, unsubscribe anytime.